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Pathogenic/likely pathogenic germline variants in the BRCA1 and BRCA2 genes are associated with an increased risk of developing cancer, particularly breast and/or ovarian tumors. The identification and correct classification of these variants is crucial to find individuals with an increased risk of cancer and to support physicians in their clinical and therapeutic decisions. In addition, the status of BRCA1 and BRCA2 variants is important for appropriate management of patients’ family members. Here, we describe the case of a woman who developed triple-negative breast cancer at the age of 49 years. NGS analysis of BRCA1 and BRCA2 genes revealed the presence of a new partial BRCA1 exon 10 duplication of 2.012 bp. The identified duplication comprises 395 nucleotides from the final portion of intron 9 and 1617 nucleotides from the beginning of exon 10. Using specific primers, we were able to identify the breakpoint at the DNA level and characterize the alteration as a tandem duplication leading to the formation of a premature stop codon after 10 residues. RNA analysis allowed to confirm the production of an altered mRNA showing the duplicated sequence. In this way, we were able to assign a clinical significance to the new alteration and classify it as a pathogenic variant. Although new ClinGen ENIGMA guidelines have been produced to provide tools for the accurate interpretation of variants in the BRCA1 and BRCA2 genes, defining the clinical significance of copy number variants, particularly duplications, remains a challenging goal that requires complex approaches to accurately determine the role of such variants. Other investigations, such as the detection of breakpoints by RNA analysis, are often essential to classify the identified alteration. Our study suggests that RNA transcript analysis is an ideal methodology to support the accurate classification of variants and clarify their effects.

Abstract The presence of artificial intelligence in healthcare is growing, helping in diagnosis and decision making. However, its application raises doubts, mostly related to ethics. This study aimed to identify its uses in health and its bioethical implications from a systematic literature review using the PRISMA guidelines. The ScienceDirect and Scopus databases were searched, using the descriptors “artificial intelligence,” “bioethics” and “health.” Works in English, published between 2017 and 2021 were considered, resulting in 102 articles found and, after applying the established criteria, 11 were selected. The studies reported on the bioethical principles of beneficence, non-maleficence, autonomy and justice, adding an element, explainability. Relationships were found between artificial intelligence in health and unpredictability, predictability, trust, physicians’ role, systems development, privacy, data security, financial and social aspects. Developers, healthcare professionals and patients must maximize the benefits and limit the risks of tools that use this technology.

Pathogenic/likely pathogenic germline variants in the BRCA1 and BRCA2 genes are associated with an increased risk of developing cancer, particularly breast and/or ovarian tumors. The identification and correct classification of these variants is crucial to find individuals with an increased risk of cancer and to support physicians in their clinical and therapeutic decisions. In addition, the status of BRCA1 and BRCA2 variants is important for appropriate management of patients' family members. Here, we describe the case of a woman who developed triple-negative breast cancer at the age of 49 years. NGS analysis of BRCA1 and BRCA2 genes revealed the presence of a new partial BRCA1 exon 10 duplication of 2.012 bp. The identified duplication comprises 395 nucleotides from the final portion of intron 9 and 1617 nucleotides from the beginning of exon 10. Using specific primers, we were able to identify the breakpoint at the DNA level and characterize the alteration as a tandem duplication leading to the formation of a premature stop codon after 10 residues. RNA analysis allowed to confirm the production of an altered mRNA showing the duplicated sequence. In this way, we were able to assign a clinical significance to the new alteration and classify it as a pathogenic variant. Although new ClinGen ENIGMA guidelines have been produced to provide tools for the accurate interpretation of variants in the BRCA1 and BRCA2 genes, defining the clinical significance of copy number variants, particularly duplications, remains a challenging goal that requires complex approaches to accurately determine the role of such variants. Other investigations, such as the detection of breakpoints by RNA analysis, are often essential to classify the identified alteration. Our study suggests that RNA transcript analysis is an ideal methodology to support the accurate classification of variants and clarify their effects. [ABSTRACT FROM AUTHOR]

O imperador Nero foi se constituindo, ao longo de séculos e com o uso de múltiplas linguagens produzidas por diversas culturas, num símbolo bastante universalizado de tirania. Associado, sobretudo, com a loucura e a destruição, serviu para a crítica dos mais diversos governantes que o seguiram e cometeram crimes que pudessem, de algum modo, ser ligados àqueles que foram atribuídos a Nero. Tais aproximações, muito variadas ao longo do tempo e espaço, permitiram a constituição de um amplo e multifacetado repertório de Neros produzidos na política, na literatura, no cinema, na música etc. Esse repertório gerou uma tradição composta da associação do Nero “original” com os diversos personagens e contextos dos “novos” Neros. Essa tradição permitiu ao mesmo tempo uma nova interpretação do passado e uma leitura original do presente. Nesse sentido, há uma construção recíproca e simultânea do(s) passado(s) e do presente, gerando o processo de allelopoiesis, produzindo Neros que não pertencem exclusivamente ao(s) passados ou ao presente, mas mesclam e confundem inextricavelmente essas temporalidades em diferentes sínteses que se comunicam através de uma tradição com a forma de repertório a ser reapropriado e modificado. Esse artigo tem por foco o caso do Presidente da República do Brasil, Jair Bolsonaro, apelidado de BolsoNero.

Abstract Objective: To describe a case series of multisystem inflammatory syndrome in children (MIS-C) in a pediatric tertiary hospital. Methods: Patients under the age of 18 years who met MIS-C criteria of the Brazilian Ministry of Health (MH) and/or the Royal College of Paediatrics and Child Health (RCPCH) were included. A retrospective analysis was carried out by reviewing medical records and complementary exams. Results: Six pediatric patients with mean age of 126 months were admitted with fever associated with multisystem involvement: all of them had abdominal pain and diarrhea and two underwent appendectomy; 100% had coagulopathy and increased inflammatory markers; 83% had cardiovascular impairment and 60% required vasoactive drugs; 83% had mucocutaneous symptoms and 50% required ventilatory support by invasive mechanical ventilation or non-invasive ventilation. One patient showed coronary artery dilation on echocardiogram. All patients received empiric antibiotic therapies. SARS-CoV-2 IgG testing was positive in five patients. Treatment was performed after excluding infectious causes: five patients (83%) received intravenous immunoglobulin, five patients (83%) pulse methylprednisolone therapy and one (16%) Tocilizumab. One patient died. The average length of stay in Pediatric Intensive Care Unit (PICU) was seven days. Conclusions: These cases are added to the literature in construction of this emerging condition. Early diagnosis should be considered due to its potential severity.

Essa notícia dá informações breves sobre a formação, funcionamento e atividades principais do Laboratório de Estudos sobre o Império Romano (LEIR). Oferece ainda vinculos de internet para um panorama mais amplo relativo a esses elementos tratados de maneira sucinta no artigo.

Abstract Background The optimal surgical margins assessment is capital in oral squamous cell carcinoma (OSCC) management. We evaluated the clinical benefits of integrating intraoperative macroscopic margin (MM) assessment and narrow band imaging (NBI). Methods Sixteen OSCC patients eligible for surgery were prospectively enrolled. For each patient, 2 to 6 bioptic samples of MM and NBI margins were obtained and histologically analyzed for the presence of dysplasia and lymphocytes. Microvessel density was investigated by CD34 immunohistochemistry. Results Taken together, 104 specimens were analyzed, including 15% tumors, 33% MM, 33% NBI margins, and 19% MM-NBI overlapping margins. The NBI margins were closer to the lesion in 50% cases, while the same number of MM were more conservative than NBI, irrespective of the tumor site. The rate of histologically positive margins was similar among the two methods, akin to the microvessel density. Conclusions MM assessment should be integrated but not replaced with the NBI technology to allow for more conservative surgery.

BackgroundDespite significant improvement in screening programs for cancers of the respiratory district, especially in at-risk subjects, early disease detection is still a major issue. In this scenario, new molecular and non-invasive biomarkers are needed to improve early disease diagnosis.MethodsWe profiled the miRNome in exhaled breath condensate (EBC) and plasma samples from fourteen patients affected by lung AdCa, nine healthy subjects. miRNA signatures were then analyzed in another neoplasia of the respiratory district, i.e. pleural mesothelioma (n = 23) and subjects previously exposed to asbestos were used as controls for this cohort (n = 19). Selected miRNAs were analyzed in purified pulmonary neoplastic or normal epithelial and stromal cell subpopulation from AdCa patients. Finally, the plasmatic miRNA signature was analyzed in a publicly available cohort of NSCLC patients for data validation and in silico analysis was performed with predicted miRNA targets using the multiMiR tool and STRING database.ResultsmiR-597-5p and miR-1260a are significantly over-expressed in EBC from lung AdCa and are associated with AdCa. Similarly, miR-1260a is also up-regulated in the plasma of AdCa patients together with miR-518f-3p and correlates with presence of lung cancer, whereas let-7f-5p is under-expressed. Analysis of these circulating miRNAs in pleural mesothelioma cases confirmed that up-regulation of miR-518f-3p, -597-5p and -1260a, is specific for lung AdCa. Lastly, quantification of the miRNAs in laser-assisted microdissected lung tissues revealed that miR-518f-3p, 597-5p and miR-1260a are predominantly expressed in tumor epithelial cells. Validation analysis confirmed miR-518f-3p as a possible circulating biomarker of NSCLC. In silico analysis of the potentially modulated biological processes by these three miRNAs, shows that tumor bioenergetics are the most affected pathways.ConclusionsOverall, our data suggest a 3-miRNAs signature as a non-invasive and accurate biomarker of lung AdCa. This approach could supplement the current screening approaches for early lung cancer diagnosis.

Copyright of Romanitas: Revista de Estudos Greco-Latinas is the property of Universidade Federal do Espirito Santo and its content may not be copied or emailed to multiple sites or posted to a listserv without the copyright holder's express written permission. However, users may print, download, or email articles for individual use. This abstract may be abridged. No warranty is given about the accuracy of the copy. Users should refer to the original published version of the material for the full abstract. (Copyright applies to all Abstracts.)

Among the various environmental pollutants, dioxin, a highly toxic and widely used compound, is associated with numerous adverse health effects, including a potentially toxic multigenerational effect. Understanding the mechanisms by which dioxin exposure can affect sperm epigenetics is critical to comprehending the potential consequences for offspring health and development. This study investigates the possible association between weighted epimutations, hypothesized as markers of epigenetic drift, and dioxin exposure in sperm tissues. We used a public online methylation dataset consisting of 37 participants: 26 Vietnam veterans exposed to Agent Orange, an herbicide contaminated with 2,3,7,8-tetrachlorodibenzo- p -dioxin (TCDD), and 11 individuals not directly exposed to TCDD but whose serum dioxin levels are equivalent to the background. In our study, conducted at the gene level, 437 epimutated genes were identified as significantly associated with each single-digit increase in serum dioxin levels. We found no significant association between the rise in total epimutation load and serum dioxin levels. The pathway analysis performed on the genes reveals biological processes mainly related to changes in embryonic morphology, development, and reproduction. Results from our current study suggest the importance of further investigations on the consequences of dioxin exposure in humans with specific reference to germinal tissue and related heredity. [ABSTRACT FROM AUTHOR]

A significant quantity of nutrients in vineyards may return to the soil each year through decomposition of residues from cover plants. This study aimed to evaluate biomass decomposition and nutrient release from residues of black oats and hairy vetch deposited in the vines rows, with and without plastic shelter, and in the between-row areas throughout the vegetative and productive cycle of the plants. The study was conducted in a commercial vineyard in Bento Gonçalves, RS, Brazil, from October 2008 to February 2009. Black oat (Avena strigosa) and hairy vetch (Vicia villosa) residues were collected, subjected to chemical (C, N, P, K, Ca, and Mg) and biochemical (cellulose - Cel, hemicellulose - Hem, and lignin - Lig content) analyses, and placed in litter bags, which were deposited in vines rows without plastic shelter (VPRWS), in vines rows with plastic shelter (VPRS), and in the between-row areas (BR). We collected the residues at 0, 33, 58, 76, and 110 days after deposition of the litter bags, prepared the material, and subjected it to analysis of total N, P, K, Ca, and Mg content. The VPRS contained the largest quantities and percentages of dry matter and residual nutrients (except for Ca) in black oat residues from October to February, which coincides with the period from flowering up to grape harvest. This practice led to greater protection of the soil surface, avoiding surface runoff of the solution derived from between the rows, but it retarded nutrient cycling. The rate of biomass decomposition and nutrient release from hairy vetch residues from October to February was not affected by the position of deposition of the residues in the vineyard, which may especially be attributed to the lower values of the C/N and Lig/N ratios. Regardless of the type of residue, black oat or hairy vetch, the greatest decomposition and nutrient release mainly occurred up to 33 days after deposition of the residues on the soil surface, which coincided with the flowering of the grapevines, which is one of the phenological stages of greatest demand for nutrients.

Copyright of Revista Bioetica is the property of Conselho Federal de Medicina and its content may not be copied or emailed to multiple sites or posted to a listserv without the copyright holder's express written permission. However, users may print, download, or email articles for individual use. This abstract may be abridged. No warranty is given about the accuracy of the copy. Users should refer to the original published version of the material for the full abstract. (Copyright applies to all Abstracts.)

O artigo analisa o conceito de Estado e as relações entre sociedade e Estado na obra de Sêneca.This article aims at analyzing the concept of State and the relationships between society and State in Seneca's work.

Este estudo ecológico, baseado nos dados secundários da vigilância epidemiológica e usando município como unidade de análise, mostrou que as coberturas da vacina contra sarampo foram menores de níveis necessários para erradicação (95%) e controle (90%) em grande parte do Estado de Santa Catarina, Brasil, antes e durante a epidemia de 1997, principalmente da segunda dose da vacina, prevista para 15 meses de idade dentro da vacina triviral. Houve melhora nos anos seguintes, mas continuou faltando a homogeneidade da cobertura. Baixas coberturas vacinais foram associadas com maior incidência de sarampo, mas, no ano epidêmico de 1997, surtos menores de sarampo ocorreram até em alguns municípios com coberturas acima de 95% no primeiro ano de vida, com maior concentração naqueles com baixa cobertura da vacina triviral. Cerca de 80% dos casos de sarampo no período de 1996-2000 ocorreram entre escolares e jovens adultos. A circulação do vírus do sarampo no ano anterior e a densidade populacional aumentaram o risco de sarampo. Dois casos importados em 2004 ilustram bem porque ainda não podemos falar de erradicação e sim de eliminação do sarampo no Estado.This ecological study, based on an analysis of secondary data from epidemiological surveillance and using the municipality (county) as the unit of analysis, showed that measles vaccine coverage was lower than necessary for eradication (95%) and control (90%) in many municipalities in the State of Santa Catarina, Brazil, both before and during the last epidemic in 1997, particularly regarding the second dose of the vaccine, applied as a component of the MMR vaccine, scheduled at 15 months of age. Low vaccine coverage was associated with higher measles incidence. However, during the 1997 epidemic small-scale measles outbreaks were recorded even in municipalities with first-dose coverage of 95% or higher, particularly among those which also had low second-dose coverage for MMR. Approximately 80% of all measles cases during 1996-2000 occurred among schoolchildren and young adults. Measles virus circulation in the municipality in the previous year and population density increased the risk of measles. Two imported cases of measles in Santa Catarina in 2004 illustrate that it would be premature to describe the current situation as one of eradication.